MODIFIER:EPISODIC;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > QUADRIPLEGIA, EPISODIC
MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COMMUNICATING HYDROCEPHALUS, PROGRESSIVE
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > NYSTAGMUS, MILD
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > PHOTOPHOBIA, MILD
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_FACE > FACIAL ASYMMETRY (MILD)
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE IMPAIRMENT, MILD
MODIFIER:SEVERE;OMIM-CS:SKIN, NAILS, HAIR_NAILS > ONYCHODYSTROPHY, SEVERE
MODIFIER:MILD;OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA, MILD
MODIFIER:SEVERE;OMIM-CS:GENITOURINARY_INTERNAL GENITALIA, FEMALE > DYSMENORRHEA, SEVERE
MODIFIER:MODERATE;OMIM-CS:skeletalpelvis > FEMORAL HYPOPLASIA, MODERATE
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPEECH DELAY, MILD
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_FACE > FACIAL MUSCLE WEAKNESS, MILD
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > EXTRAPYRAMIDAL SIGNS, MILD
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > TREMOR, MILD
MODIFIER:MODERATE;OMIM-CS:headandneckeyes > MYOPIA, MODERATE
MODIFIER:PROXIMAL;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE ATROPHY, PROXIMAL
MODIFIER:DISTAL;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, DISTAL
MODIFIER:PROXIMAL;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROXIMAL
MODIFIER:MILD;OMIM-CS:SKELETAL_SPINE > LUMBAR LORDOSIS, MILD
MODIFIER:MILD;OMIM-CS:HEMATOLOGY > ANEMIA, MILD
MODIFIER:CHRONIC;OMIM-CS:GENITOURINARY_KIDNEYS > NEPHRITIS, CHRONIC
MODIFIER:DISTAL;OMIM-CS:LIMBS > ARTHROGRYPOSIS, DISTAL
MODIFIER:DISTAL;OMIM-CS:JOINTS > ARTHROGRYPOSIS, DISTAL
MODIFIER:SEVERE;OMIM-CS:GROWTH_OTHER > POSTNATAL GROWTH RETARDATION, SEVERE
MODIFIER:BILATERAL;OMIM-CS:SKELETAL_FEET > BROAD HALLUX, BILATERAL
MODIFIER:BILATERAL;OMIM-CS:SKELETAL_FEET > BROAD HALLUX, BILATERAL
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA, MILD
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_MOUTH > MICROGNATHIA, MILD
MODIFIER:MILD;OMIM-CS:CARDIOVASCULAR_HEART > AORTIC STENOSIS, MILD
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_FACE > MIDFACE HYPOPLASIA, MILD
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:MILD;OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > PECTUS EXCAVATUM, MILD
MODIFIER:EPISODIC;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ENCEPHALOPATHY, EPISODIC
MODIFIER:MILD;OMIM-CS:LABORATORY ABNORMALITIES > METHYLMALONIC ACIDURIA, MILD
MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY, PROFOUND
MODIFIER:PROGRESSIVE;OMIM-CS:SKELETAL > JOINT STIFFNESS, PROGRESSIVE
MODIFIER:PROGRESSIVE;OMIM-CS:SKELETAL > CONTRACTURES, PROGRESSIVE
MODIFIER:SEVERE;OMIM-CS:RESPIRATORY > ABSENCE OF SPONTANEOUS RESPIRATION (SEVERE FORM)
MODIFIER:SEVERE;OMIM-CS:SKELETAL > ARTHROGRYPOSIS (SEVERE FORM)
MODIFIER:SEVERE;OMIM-CS:SKELETAL_FEET > TOE CONTRACTURES, SEVERE
MODIFIER:SEVERE;OMIM-CS:SKELETAL_HANDS > FINGER CONTRACTURES, SEVERE
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR RETARDATION, MILD
MODIFIER:SEVERE;OMIM-CS:SKEL > SEVERE OSTEOPETROSIS
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GLOBAL DEVELOPMENTAL DELAY, SEVERE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY, SEVERE
MODIFIER:EPISODIC;OMIM-CS:RESPIRATORY > APNEA, EPISODIC
MODIFIER:EPISODIC;OMIM-CS:HEME > EPISODIC NEUTROPENIA
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_MOUTH > PROGNATHISM, MILD
MODIFIER:SEVERE;OMIM-CS:HEAD AND NECK_MOUTH > DENTAL CARIES, SEVERE
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_FACE > FACIAL DYSMORPHISM, MILD
MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NEURODEGENERATION, PROGRESSIVE
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE IMPAIRMENT, MILD
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE
MODIFIER:PROGRESSIVE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WASTING, PROGRESSIVE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:REFRACTORY;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES, REFRACTORY
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:SEVERE;OMIM-CS:SKIN, NAILS, HAIR_SKIN > PALMOPLANTAR HYPERKERATOSIS, SEVERE
MODIFIER:MILD;OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > HYPOSPADIAS, MILD
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES, MILD
MODIFIER:SEVERE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCULAR HYPOTONIA, SEVERE
MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, PROFOUND
MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > PERIPHERAL NEUROPATHY, PROGRESSIVE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE
MODIFIER:CHRONIC;OMIM-CS:ABDOMEN_LIVER > CHRONIC HEPATITIS
MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE, PROFOUND
MODIFIER:MILD;OMIM-CS:GROWTH_HEIGHT > DWARFISM, MILD
MODIFIER:PROXIMAL;OMIM-CS:SKELETAL_LIMBS > SHORT RADII, PROXIMAL
MODIFIER:SEVERE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, SEVERE
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_BEHAVIORAL/PSYCHIATRIC MANIFESTATIONS > HYPERACTIVE BEHAVIOR, MILD
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY, MILD
MODIFIER:PROGRESSIVE;OMIM-CS:HEAD AND NECK_EYES > VISUAL LOSS, PROGRESSIVE
MODIFIER:EPISODIC;OMIM-CS:MUSCLE, SOFT TISSUE > WEAKNESS, EPISODIC
MODIFIER:BILATERAL;OMIM-CS:GENITOURINARY_KIDNEYS > HYDRONEPHROSIS, BILATERAL
MODIFIER:DISTAL;OMIM-CS:SKELETAL_HANDS > ARTHROGRYPOSIS, DISTAL
MODIFIER:SEVERE;OMIM-CS:GROWTH_OTHER > FAILURE TO THRIVE, SEVERE
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > SYNOPHRYS, MILD
MODIFIER:MILD;OMIM-CS:SKIN, NAILS, HAIR_HAIR > SYNOPHRYS, MILD
MODIFIER:MILD;OMIM-CS:MUSCLE, SOFT TISSUE > DISTAL MUSCLE WASTING, MILD
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > LOWER LIMB SPASTICITY, MILD
MODIFIER:SEVERE;OMIM-CS:HEAD AND NECK_EYES > NIGHT BLINDNESS, SEVERE
MODIFIER:MODERATE;OMIM-CS:SKIN, NAILS, HAIR_SKIN > PARAKERATOSIS, MODERATE
MODIFIER:MODERATE;OMIM-CS:skinnailshairskinhistology > ACANTHOSIS, MODERATE
MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR RETARDATION, PROFOUND
MODIFIER:MILD;OMIM-CS:CARDIOVASCULAR_VASCULAR > PULMONARY HYPERTENSION, MILD
MODIFIER:PROGRESSIVE;OMIM-CS:HEAD AND NECK_EYES > CORNEAL CLOUDING, PROGRESSIVE
MODIFIER:RECURRENT;OMIM-CS:metabolicfeatures > FEVER, RECURRENT
MODIFIER:PROGRESSIVE;OMIM-CS:SKIN, NAILS, HAIR_HAIR > HAIR LOSS, PROGRESSIVE
MODIFIER:GENERALIZED;OMIM-CS:skinnailshairskin > VITILIGO, GENERALIZED
MODIFIER:BILATERAL;OMIM-CS:HEAD AND NECK_EARS > CONDUCTIVE HEARING LOSS, BILATERAL
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE
MODIFIER:PROGRESSIVE;OMIM-CS:SKELETAL > PROGRESSIVE OSTEOPENIA
MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_NOSE > RHINITIS, RECURRENT
MODIFIER:PROFOUND;OMIM-CS:HEAD AND NECK_EARS > DEAFNESS, PROFOUND
MODIFIER:PROFOUND;OMIM-CS:HEAD AND NECK_EARS > DEAFNESS, PROFOUND
MODIFIER:EPISODIC;OMIM-CS:HEMATOLOGY > HEMOLYTIC ANEMIA, EPISODIC
MODIFIER:PROGRESSIVE;OMIM-CS:neurologiccentralnervoussystem > MEMORY LOSS, PROGRESSIVE
MODIFIER:REFRACTORY;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES, REFRACTORY
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL IMPAIRMENT, MILD
MODIFIER:DISTAL;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROGRESSIVE, DISTAL
MODIFIER:PROXIMAL;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROGRESSIVE, PROXIMAL
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE IMPAIRMENT, MILD
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > EXOPHTHALMOS, MILD
MODIFIER:BILATERAL;OMIM-CS:HEAD AND NECK_EYES > PTOSIS, BILATERAL
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EARS > HEARING LOSS, MILD
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY, MILD
MODIFIER:PROFOUND;OMIM-CS:HEAD AND NECK_EARS > HEARING LOSS, SENSORINEURAL, PROFOUND
MODIFIER:PROGRESSIVE;OMIM-CS:HEAD AND NECK_EYES > LOSS OF VISUAL ACUITY, PROGRESSIVE
MODIFIER:PROGRESSIVE;OMIM-CS:HEAD AND NECK_EYES > MACULAR ATROPHY, PROGRESSIVE
MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBRAL WHITE MATTER ATROPHY, PROGRESSIVE
MODIFIER:EPISODIC;OMIM-CS:ABDOMEN_GASTROINTESTINAL > INTESTINAL EDEMA, EPISODIC
MODIFIER:EPISODIC;OMIM-CS:ABDOMEN_GASTROINTESTINAL > VOMITING, EPISODIC
MODIFIER:EPISODIC;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSKINESIA, EPISODIC
MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY
MODIFIER:EPISODIC;OMIM-CS:ABDOMEN > ABDOMINAL PAIN, EPISODIC
MODIFIER:EPISODIC;OMIM-CS:HEAD AND NECK_MOUTH > APHTHOUS ULCERS, EPISODIC
MODIFIER:EPISODIC;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HEADACHE, EPISODIC
MODIFIER:EPISODIC;OMIM-CS:SKIN, NAILS, HAIR_SKIN > URTICARIA, EPISODIC
MODIFIER:PROGRESSIVE;OMIM-CS:SKELETAL_HANDS > CAMPTODACTYLY (PROGRESSIVE)
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR DELAY, SEVERE
MODIFIER:MODERATE;OMIM-CS:skinnailshairskinhistology > ACANTHOSIS, MODERATE
MODIFIER:PROGRESSIVE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE ATROPHY, PROGRESSIVE
MODIFIER:BILATERAL;OMIM-CS:HEAD AND NECK_EYES > REDUCED VISUAL ACUITY, BILATERAL
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MOTOR DEVELOPMENT, SEVERE
MODIFIER:MILD;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROXIMAL, MILD
MODIFIER:EPISODIC;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, EPISODIC
MODIFIER:PROXIMAL;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > LOWER LIMB MUSCLE WEAKNESS, PROXIMAL
MODIFIER:SEVERE;OMIM-CS:GROWTH_OTHER > POSTNATAL GROWTH RETARDATION, SEVERE
MODIFIER:PROGRESSIVE;OMIM-CS:skinnailshairhair > HAIR LOSS, PROGRESSIVE
MODIFIER:MILD;OMIM-CS:SKIN, NAILS, HAIR_SKIN > EPIDERMOLYTIC HYPERKERATOSIS, MILD
MODIFIER:RECURRENT;OMIM-CS:ABDOMEN_GASTROINTESTINAL > RECURRENT VOMITING
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBRAL ATROPHY, DIFFUSE, SEVERE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL RETARDATION, SEVERE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED SPEECH DEVELOPMENT, SEVERE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY, SEVERE
MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY, PROFOUND
MODIFIER:PROGRESSIVE;OMIM-CS:HEAD AND NECK_EYES > PERIPAPILLARY CHORIORETINAL ATROPHY, PROGRESSIVE
MODIFIER:MILD;OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, FEMALE > HYPOPLASTIC LABIA MAJORA, MILD
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR RETARDATION, MILD
MODIFIER:GENERALIZED;OMIM-CS:SKELETAL_LIMBS > JOINT LAXITY, GENERALIZED
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CLUMSINESS (MILD)
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOTONIA (MILD)
MODIFIER:SEVERE;OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY, PROFOUND (AT LEAST 10 SD BELOW MEAN)
MODIFIER:RECURRENT;OMIM-CS:SKIN, NAILS, HAIR_SKIN > CELLULITIS, RECURRENT
MODIFIER:MILD;OMIM-CS:GENITOURINARY_EXTERNAL GENITALIA, MALE > HYPOSPADIAS, MILD
MODIFIER:MILD;OMIM-CS:RESPIRATORY_LUNG > PULMONARY HYPOPLASIA, MILD
MODIFIER:EPISODIC;OMIM-CS:HEAD AND NECK_EYES > VISION LOSS, EPISODIC
MODIFIER:PROGRESSIVE;OMIM-CS:IMMUNOLOGY > LYMPHOPENIA, PROGRESSIVE
MODIFIER:SEVERE;OMIM-CS:HEAD AND NECK_EYES > HIGH MYOPIA, SEVERE
MODIFIER:BILATERAL;OMIM-CS:HEAD AND NECK_EARS > PREAURICULAR SINUS, BILATERAL
MODIFIER:MILD;OMIM-CS:HEMATOLOGY > THROMBOCYTOPENIA, MILD
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > BLEPHAROPHIMOSIS, MILD
MODIFIER:BILATERAL;OMIM-CS:HEAD AND NECK_EYES > CONGENITAL CATARACTS, BILATERAL
MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, PROFOUND
MODIFIER:MILD;OMIM-CS:LABORATORY ABNORMALITIES > INCREASED SERUM CREATINE KINASE, MILD
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY, MILD
MODIFIER:MODERATE;OMIM-CS:neurologiccentralnervoussystem > MOTOR DELAY, MODERATE
MODIFIER:MODERATE;OMIM-CS:neurologiccentralnervoussystem > MOTOR DELAY, MODERATE
MODIFIER:BILATERAL;OMIM-CS:HEAD AND NECK_MOUTH > CLEFT LIP, BILATERAL
MODIFIER:BILATERAL;OMIM-CS:HEAD AND NECK_MOUTH > CLEFT PALATE, BILATERAL
MODIFIER:EPISODIC;OMIM-CS:METABOLIC FEATURES > LACTIC ACIDOSIS, EPISODIC
MODIFIER:EPISODIC;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DIZZINESS, EPISODIC
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > TRUNCAL ATAXIA, MILD
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > HYPERTELORISM, MILD
MODIFIER:MODERATE;OMIM-CS:HEAD AND NECK_EYES > NYSTAGMUS, MODERATE
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, MILD
MODIFIER:SEVERE;OMIM-CS:SKELETAL_HANDS > BRACHYDACTYLY, SEVERE
MODIFIER:EPISODIC;OMIM-CS:RESPIRATORY > HYPERVENTILATION, EPISODIC
MODIFIER:REFRACTORY;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES, REFRACTORY
MODIFIER:SEVERE;OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY (-12 TO -14.5 SD)
MODIFIER:PROGRESSIVE;OMIM-CS:HEAD AND NECK_EYES > VISUAL IMPAIRMENT, PROGRESSIVE
MODIFIER:SEVERE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE ATROPHY, DIFFUSE, SEVERE
MODIFIER:GENERALIZED;OMIM-CS:skinnailshairskin > LIVEDO RETICULARIS, GENERALIZED
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSMETRIA, MILD
MODIFIER:NONPROGRESSIVE;OMIM-CS:HEAD AND NECK_EYES > DECREASED VISUAL ACUITY, NONPROGRESSIVE
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE IMPAIRMENT, MILD
MODIFIER:SEVERE;OMIM-CS:SKELETAL_SPINE > KYPHOSCOLIOSIS, SEVERE
MODIFIER:EPISODIC;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HEMIPLEGIA, EPISODIC
MODIFIER:EPISODIC;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > QUADRIPLEGIA, EPISODIC
MODIFIER:PROGRESSIVE;OMIM-CS:musclesofttissue > HYPOTONIA, PROGRESSIVE
MODIFIER:PROGRESSIVE;OMIM-CS:neurologiccentralnervoussystem > AREFLEXIA, PROGRESSIVE
MODIFIER:PROFOUND;OMIM-CS:HEAD AND NECK_EARS > SENSORINEURAL DEAFNESS, PROFOUND
MODIFIER:PROFOUND;OMIM-CS:musclesofttissue > HYPOTONIA, PROFOUND
MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_NOSE > RHINITIS, RECURRENT
MODIFIER:PROGRESSIVE;OMIM-CS:musclesofttissue > HYPOTONIA, PROGRESSIVE
MODIFIER:CHRONIC;OMIM-CS:ABDOMEN_LIVER > HEPATITIS, CHRONIC
MODIFIER:EPISODIC;OMIM-CS:METABOLIC > HYPOGLYCEMIA, EPISODIC
MODIFIER:BILATERAL;OMIM-CS:HEAD AND NECK_EARS > HEARING LOSS, BILATERAL
MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_NOSE > RHINITIS, RECURRENT
MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GLOBAL DEVELOPMENTAL DELAY, PROFOUND
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GLOBAL DEVELOPMENTAL DELAY, MILD
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE IMPAIRMENT, MILD
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:MILD;OMIM-CS:HEMATOLOGY > PANCYTOPENIA, MILD
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED DEVELOPMENT, SEVERE
MODIFIER:MODERATE;OMIM-CS:skinnailshairskinhistology > ACANTHOSIS, MODERATE
MODIFIER:MILD;OMIM-CS:SKIN, NAILS, HAIR_SKIN > HYPERKERATOSIS, MILD
MODIFIER:EPISODIC;OMIM-CS:RESPIRATORY > CENTRAL APNEA, EPISODIC
MODIFIER:EPISODIC;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PAIN, EPISODIC
MODIFIER:REFRACTORY;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES, REFRACTORY
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DYSARTHRIA (MILD)
MODIFIER:MILD;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE ATROPHY, MILD
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > STRABISMUS, MILD
MODIFIER:MILD;OMIM-CS:SKELETAL_FEET > CAMPTODACTYLY, MILD
MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTIC DIPLEGIA, PROGRESSIVE
MODIFIER:MILD;OMIM-CS:LABORATORY ABNORMALITIES > INCREASED SERUM CREATINE KINASE, MILD
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBRAL ATROPHY, SEVERE
MODIFIER:SEVERE;OMIM-CS:HEAD AND NECK_HEAD > MICROCEPHALY, SEVERE (-9 S.D.)
MODIFIER:MILD;OMIM-CS:CHEST_EXTERNAL FEATURES > FUNNEL CHEST, MILD
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DEVELOPMENTAL DELAY, MILD
MODIFIER:PROXIMAL;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROXIMAL
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > PTOSIS, MILD
MODIFIER:MILD;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, LIMB-GIRDLE, MILD
MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > NEURODEGENERATION, PROGRESSIVE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE
MODIFIER:SEVERE;OMIM-CS:SKELETAL_HANDS > SYNDACTYLY, SEVERE
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > PHOTOPHOBIA, MILD
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:MILD;OMIM-CS:CARDIOVASCULAR_HEART > CARDIOMYOPATHY, DILATED, MILD
MODIFIER:PROGRESSIVE;OMIM-CS:neurologiccentralnervoussystem > MENTAL DEFICIENCY, PROGRESSIVE
MODIFIER:MILD;OMIM-CS:SKELETAL_LIMBS > BROAD FEMORAL NECK, MILD
MODIFIER:MILD;OMIM-CS:SKELETAL_SPINE > ODONTOID HYPOPLASIA, MILD
MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ENCEPHALOPATHY, PROGRESSIVE
MODIFIER:SEVERE;OMIM-CS:HEMATOLOGY > ANEMIA, SEVERE
MODIFIER:SEVERE;OMIM-CS:CARDIOVASCULAR_HEART > CARDIOMYOPATHY, DILATED, SEVERE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR RETARDATION, SEVERE
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MYELINATION, MILD
MODIFIER:DISTAL;OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > AREFLEXIA, DISTAL
MODIFIER:DISTAL;OMIM-CS:NEUROLOGIC_PERIPHERAL NERVOUS SYSTEM > HYPOREFLEXIA, DISTAL
MODIFIER:CHRONIC;OMIM-CS:HEAD AND NECK_FACE > SINUSITIS, CHRONIC
MODIFIER:MILD;OMIM-CS:CHEST_RIBS, STERNUM, CLAVICLES, AND SCAPULAE > SCAPULAR WINGING, MILD
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_FACE > FACIAL WEAKNESS, MILD
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR RETARDATION, SEVERE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE
MODIFIER:SEVERE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, SEVERE
MODIFIER:PROXIMAL;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROXIMAL
MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE DECLINE, PROGRESSIVE
MODIFIER:MILD;OMIM-CS:LABORATORY ABNORMALITIES > INCREASED SERUM LACTATE (MILD)
MODIFIER:MILD;OMIM-CS:GROWTH_OTHER > MACROSOMIA, MILD
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_HEAD > MACROCEPHALY, MILD
MODIFIER:SEVERE;OMIM-CS:GROWTH_OTHER > POSTNATAL GROWTH RETARDATION, SEVERE
MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR RETARDATION, PROFOUND
MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_HEAD > SINUSITIS, RECURRENT
MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_HEAD > SINUSITIS, RECURRENT
MODIFIER:EPISODIC;OMIM-CS:ABDOMEN_LIVER > ACUTE LIVER FAILURE, EPISODIC
MODIFIER:EPISODIC;OMIM-CS:LABORATORY ABNORMALITIES > ABNORMAL LIVER ENZYMES, EPISODIC
MODIFIER:EPISODIC;OMIM-CS:LABORATORY ABNORMALITIES > HYPERAMMONEMIA, EPISODIC
MODIFIER:EPISODIC;OMIM-CS:METABOLIC FEATURES > KETOACIDOSIS, EPISODIC
MODIFIER:EPISODIC;OMIM-CS:METABOLIC FEATURES > LACTIC ACIDOSIS, EPISODIC
MODIFIER:SEVERE;OMIM-CS:GROWTH_WEIGHT > OBESITY, SEVERE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PSYCHOMOTOR RETARDATION, SEVERE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GLOBAL DEVELOPMENTAL DELAY, SEVERE
MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_HEAD > SINUSITIS, RECURRENT
MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_NOSE > RHINITIS, RECURRENT
MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_HEAD > SINUSITIS, RECURRENT
MODIFIER:PROGRESSIVE;OMIM-CS:HEAD AND NECK_EYES > VISUAL LOSS, PROGRESSIVE
MODIFIER:MODERATE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY, MODERATE
MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_HEAD > SINUSITIS, RECURRENT
MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_NOSE > RHINITIS, RECURRENT
MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_HEAD > SINUSITIS, RECURRENT
MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_NOSE > RHINITIS, RECURRENT
MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_HEAD > SINUSITIS, RECURRENT
MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_NOSE > RHINITIS, RECURRENT
MODIFIER:PROGRESSIVE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROGRESSIVE
MODIFIER:BILATERAL;OMIM-CS:SKELETAL_FEET > TALIPES EQUINOVARUS, BILATERAL
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPEECH DELAY, SEVERE
MODIFIER:MILD;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, MILD
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED MOTOR DEVELOPMENT, MILD
MODIFIER:BILATERAL;OMIM-CS:HEAD AND NECK_EARS > PREAURICULAR FISTULAS, BILATERAL
MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ENCEPHALOPATHY, PROGRESSIVE
MODIFIER:PROFOUND;OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY, MILD
MODIFIER:MILD;OMIM-CS:CHEST_EXTERNAL FEATURES > PECTUS EXCAVATUM, MILD
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_FACE > RETROGNATHIA, MILD
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:BILATERAL;OMIM-CS:HEAD AND NECK_EYES > CONGENITAL CATARACTS, BILATERAL
MODIFIER:PROGRESSIVE;OMIM-CS:HEAD AND NECK_EYES > OPTIC NERVE ATROPHY, PROGRESSIVE
MODIFIER:RECURRENT;OMIM-CS:METABOLIC FEATURES > FEVER, RECURRENT
MODIFIER:RECURRENT;OMIM-CS:HEAD AND NECK_FACE > SINUSITIS, RECURRENT
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:GENERALIZED;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES, GENERALIZED
MODIFIER:EPISODIC;OMIM-CS:RESPIRATORY > TACHYPNEA, EPISODIC
MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GLOBAL DEVELOPMENTAL DELAY, SEVERE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND
MODIFIER:SEVERE;OMIM-CS:SKELETAL_SPINE > KYPHOSCOLIOSIS, SEVERE
MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND
MODIFIER:SEVERE;OMIM-CS:CARDIOVASCULAR_VASCULAR > HYPERTENSION, SEVERE
MODIFIER:BILATERAL;OMIM-CS:ENDOCRINE FEATURES > ADRENAL HYPERPLASIA, BILATERAL
MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND
MODIFIER:SEVERE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, SEVERE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > AXIAL HYPOTONIA, SEVERE
MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY, PROGRESSIVE
MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBRAL ATROPHY, PROGRESSIVE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, PROFOUND
MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTIC QUADRIPLEGIA, PROGRESSIVE
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > PONTINE HYPOPLASIA, MILD
MODIFIER:PROXIMAL;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROXIMAL
MODIFIER:PROGRESSIVE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROGRESSIVE
MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ENCEPHALOPATHY, PROGRESSIVE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > GLOBAL DEVELOPMENTAL DELAY, SEVERE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED DEVELOPMENT, SEVERE
MODIFIER:SEVERE;OMIM-CS:HEAD AND NECK_EYES > MYOPIA, SEVERE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY, SEVERE
MODIFIER:SEVERE;OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY, SEVERE
MODIFIER:RECURRENT;OMIM-CS:RESPIRATORY > LOWER RESPIRATORY TRACT INFECTIONS, RECURRENT
MODIFIER:CHRONIC;OMIM-CS:RESPIRATORY > RESPIRATORY INFECTIONS, RECURRENT, CHRONIC
MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND
MODIFIER:MILD;OMIM-CS:SKIN, NAILS, HAIR_SKIN > HYPERKERATOSIS, MILD
MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND
MODIFIER:EPISODIC;OMIM-CS:HEMATOLOGY > DISSEMINATED INTRAVASCULAR COAGULATION, EPISODIC
MODIFIER:EPISODIC;OMIM-CS:HEMATOLOGY > PANCYTOPENIA, EPISODIC
MODIFIER:EPISODIC;OMIM-CS:METABOLIC FEATURES > FEVER, EPISODIC
MODIFIER:EPISODIC;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, EPISODIC
MODIFIER:EPISODIC;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ATAXIA, EPISODIC
MODIFIER:EPISODIC;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SLURRED SPEECH, EPISODIC
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > PHOTOPHOBIA, MILD
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY, MILD
MODIFIER:SEVERE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE ATROPHY, SEVERE
MODIFIER:SEVERE;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, SEVERE
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, MILD
MODIFIER:PROXIMAL;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROXIMAL
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > COGNITIVE IMPAIRMENT, MILD
MODIFIER:SEVERE;OMIM-CS:METABOLIC FEATURES > KETOACIDOSIS, SEVERE
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > UPSLANTING PALPEBRAL FISSURES, MILD
MODIFIER:MODERATE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, MODERATE
MODIFIER:EPISODIC;OMIM-CS:SKELETAL > ARTHRALGIA, EPISODIC
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > OPHTHALMOPLEGIA, MILD
MODIFIER:MILD;OMIM-CS:LABORATORY ABNORMALITIES > INCREASED SERUM LACTATE, MILD
MODIFIER:MILD;OMIM-CS:LABORATORY ABNORMALITIES > INCREASED SERUM PYRUVATE, MILD
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_FACE > DYSMORPHIC FACIAL FEATURES, MILD
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:GENERALIZED;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, GENERALIZED
MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND
MODIFIER:BILATERAL;OMIM-CS:HEAD AND NECK_EYES > POSTERIOR SUBCAPSULAR CATARACT, BILATERAL
MODIFIER:MILD;OMIM-CS:CHEST_EXTERNAL FEATURES > PECTUS EXCAVATUM, MILD
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY, SEVERE
MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND
MODIFIER:REFRACTORY;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES, REFRACTORY
MODIFIER:PROXIMAL;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROXIMAL
MODIFIER:PROXIMAL;OMIM-CS:MUSCLE, SOFT TISSUE > MUSCLE WEAKNESS, PROXIMAL
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYDROCEPHALY, MILD
MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY, PROGRESSIVE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE
MODIFIER:PROGRESSIVE;OMIM-CS:neurologiccentralnervoussystem > ESSENTIAL TREMOR, PROGRESSIVE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:EPISODIC;OMIM-CS:RESPIRATORY > APNEA, EPISODIC
MODIFIER:MILD;OMIM-CS:MUSCLE > MUSCLE ATROPHY, MILD
MODIFIER:MILD;OMIM-CS:MUSCLE > MUSCLE WEAKNESS, PROXIMAL, MILD
MODIFIER:DISTAL;OMIM-CS:SKELETAL > ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL
MODIFIER:DISTAL;OMIM-CS:SKELETAL > ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL
MODIFIER:DISTAL;OMIM-CS:SKELETAL_LIMBS > CONTRACTURES, DISTAL
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > PTOSIS, MILD
MODIFIER:EPISODIC;OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY, EPISODIC
MODIFIER:SEVERE;OMIM-CS:MUSCLE, SOFT TISSUE > GENERALIZED MUSCLE WEAKNESS, SEVERE
MODIFIER:EPISODIC;OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY, EPISODIC
MODIFIER:EPISODIC;OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY, EPISODIC
MODIFIER:EPISODIC;OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY, EPISODIC
MODIFIER:EPISODIC;OMIM-CS:RESPIRATORY > RESPIRATORY INSUFFICIENCY, EPISODIC
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED DEVELOPMENT, MILD
MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBRAL ATROPHY, PROGRESSIVE
MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND
MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND
MODIFIER:REFRACTORY;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES, REFRACTORY
MODIFIER:REFRACTORY;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES, REFRACTORY
MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY, PROGRESSIVE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > HYPERTELORISM, MILD
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > HYPERTELORISM, MILD
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:REFRACTORY;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES, REFRACTORY
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_FACE > FACIAL ASYMMETRY, MILD
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY, SEVERE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:MILD;OMIM-CS:LABORATORY ABNORMALITIES > HYPERAMMONEMIA, MILD
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY, MILD
MODIFIER:PROGRESSIVE;OMIM-CS:HEAD AND NECK_EYES > VITREOUS DETACHMENT, PROGRESSIVE
MODIFIER:PROGRESSIVE;OMIM-CS:HEAD AND NECK_EYES > EXTERNAL OPHTHALMOPLEGIA, PROGRESSIVE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY, SEVERE
MODIFIER:SEVERE;OMIM-CS:HEAD AND NECK_EYES > CATARACT, CONGENITAL, SEVERE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:MILD;OMIM-CS:HEMATOLOGY > LYMPHOPENIA, MILD
MODIFIER:PROGRESSIVE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ATAXIA, PROGRESSIVE
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > ATROPHY OF CEREBELLAR VERMIS, MILD
MODIFIER:BILATERAL;OMIM-CS:SKELETAL_PELVIS > ACETABULAR DYSPLASIA, BILATERAL
MODIFIER:PROGRESSIVE;OMIM-CS:HEMATOLOGY > BONE MARROW FAILURE, PROGRESSIVE
MODIFIER:MODERATE;OMIM-CS:HEAD AND NECK_EYES > OPTIC DISC PALLOR, MODERATE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > MENTAL RETARDATION, SEVERE
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > CEREBELLAR ATROPHY, MILD
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE
MODIFIER:MILD
MODIFIER:SEVERE;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY, SEVERE
MODIFIER:PROFOUND;OMIM-CS:MUSCLE, SOFT TISSUE > HYPOTONIA, PROFOUND
MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND
MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > INTELLECTUAL DISABILITY, PROFOUND
MODIFIER:PROFOUND;OMIM-CS:musclesofttissue > HYPOTONIA, PROFOUND
MODIFIER:MILD;OMIM-CS:HEAD AND NECK_EYES > PTOSIS, MILD
MODIFIER:MILD;OMIM-CS:SKELETAL_SPINE > THORACOLUMBAR SCOLIOSIS, MILD
MODIFIER:MILD;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > HYPOTONIA, MILD
MODIFIER:PROGRESSIVE;OMIM-CS:abdomenliver > CHOLESTATIC LIVER DISEASE, PROGRESSIVE
MODIFIER:PROGRESSIVE;OMIM-CS:neurologiccentralnervoussystem > NEURODEGENERATION, PROGRESSIVE
MODIFIER:PROFOUND;OMIM-CS:neurologiccentralnervoussystem > GLOBAL DEVELOPMENTAL DELAY, PROFOUND
MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY
MODIFIER:RECURRENT;OMIM-CS:respiratorylung > ASPIRATION PNEUMONIA, RECURRENT
MODIFIER:PROGRESSIVE;OMIM-CS:growthother > GROWTH FAILURE, PROGRESSIVE
MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY
MODIFIER:PROFOUND;OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND
MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY
MODIFIER:PROGRESSIVE;OMIM-CS:abdomenliver > LIVER FAILURE, PROGRESSIVE
MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY
MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY
MODIFIER:PROGRESSIVE;OMIM-CS:headandneckeyes > RETINAL DYSTROPHY, PROGRESSIVE
MODIFIER:PROFOUND;OMIM-CS:musclesofttissue > HYPOTONIA, PROFOUND
MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY
MODIFIER:GENERALIZED;OMIM-CS:neurologiccentralnervoussystem > DYSTONIA, GENERALIZED
MODIFIER:RECURRENT;OMIM-CS:respiratory > APNEA, RECURRENT
MODIFIER:PROGRESSIVE;OMIM-CS:headandneckeyes > REDUCED VISUAL ACUITY, PROGRESSIVE
MODIFIER:GENERALIZED;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, GENERALIZED
MODIFIER:MODERATE;OMIM-CS:growthother > GROWTH RETARDATION, MODERATE
MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY
MODIFIER:PROGRESSIVE;OMIM-CS:skeletalspine > KYPHOSCOLIOSIS, PROGRESSIVE
MODIFIER:RECURRENT;OMIM-CS:abdomengastrointestinal > RECURRENT VOMITING